rs869320684
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869320684(-;-) |
Make rs869320684(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 58226733 |
Gene | FANCL |
is a | snp |
is | mentioned by |
dbSNP | rs869320684 |
dbSNP (classic) | rs869320684 |
ClinGen | rs869320684 |
ebi | rs869320684 |
HLI | rs869320684 |
Exac | rs869320684 |
Gnomad | rs869320684 |
Varsome | rs869320684 |
LitVar | rs869320684 |
Map | rs869320684 |
PheGenI | rs869320684 |
Biobank | rs869320684 |
1000 genomes | rs869320684 |
hgdp | rs869320684 |
ensembl | rs869320684 |
geneview | rs869320684 |
scholar | rs869320684 |
rs869320684 | |
pharmgkb | rs869320684 |
gwascentral | rs869320684 |
openSNP | rs869320684 |
23andMe | rs869320684 |
SNPshot | rs869320684 |
SNPdbe | rs869320684 |
MSV3d | rs869320684 |
GWAS Ctlg | rs869320684 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320684(-;-) |
Alt | rs869320684(-;-) |
Reference | Rs869320684(C;C) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCL |
CLNDBN | Fanconi anemia, complementation group L |
Reversed | 1 |
HGVS | NC_000002.11:g.58453868delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000191022.2, |